Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization-Reference-Cited by-同舟云学术

Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization

Published:2020-04-07 Issue:5 Volume:40 Page:1142-1150
ISSN:1478-3223
Container-title:Liver International
language:en
Short-container-title:Liver Int

Author:

Zhang Jing¹²³^ORCID,Yang Ye¹²³,Gong Jing‐Yu¹^ORCID,Li Li‐Ting²³^ORCID,Li Jia‐Qi¹^ORCID,Zhang Mei‐Hong¹^ORCID,Lu Yi²³^ORCID,Xie Xin‐Bao²³,Hong Yu‐Ren⁴,Yu Zhang⁴,Knisely A. S.⁵^ORCID,Wang Jian‐She²³^ORCID

Affiliation:

1. The Department of Paediatrics Jinshan Hospital Fudan University Shanghai China

2. The Center for Paediatric Liver Diseases Children's Hospital of Fudan University Shanghai China

3. Department of Paediatrics Shanghai Medical College of Fudan University Shanghai China

4. Electron Microscopy Core Laboratory Shanghai Medical College Fudan University Shanghai China

5. Institut für Pathologie Medizinische Universität Graz Graz Austria

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Hepatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/liv.14422

Reference22 articles.

1. Neonatal Cholestasis

2. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

3. Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis

4. Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

5. A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions

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